Varaico: Literature-Extracted Genetic Variants

CACNA1A

1,183 papers

RefSeq Summary

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or n...

Pfam Domains

Ion_transaa 97–371UCSCIon transport protein

Ion_transaa 486–725UCSCIon transport protein

Ion_transaa 1242–1520UCSCIon transport protein

Ion_transaa 1564–1821UCSCIon transport protein

GPHHaa 1830–1883UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1893–1970UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 A

HGNC Previous Symbols

CACNL1A4; SCA6; MHP1; MHP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127222.2

p.Y290*

c.870C>G

Surrounding Variants

1 paper

NM_001127222.2

p.Y290C

c.869A>G

1 paper

NM_001127222.2

p.W291*

c.872G>A

1 paper

NM_001127222.2

p.W291*

c.873G>A

1 paper

NM_001127222.2

p.E292K

c.874G>A

3 papers

NM_001127222.2

p.E292E

c.876A>G

26 papers

NM_001127222.2

p.G293R

c.877G>C

26 papers

NM_001127222.2

p.G293R

c.877G>A

2 papers

NM_001127222.2

p.Q288*

c.862C>T

1 paper

NM_001127222.2

p.C287insFs

c.861dupT

15 papers

NM_001127222.2

p.C287Y

c.860G>A

1 paper

NM_001127222.2

p.P294S

c.880C>T

2 papers

NM_001127222.2

p.C287R

c.859T>C